SLC6A3-related dopamine transporter deficiency syndrome

MONDO:0700117

A complex movement disorder characterized by tremor, rigidity, bradykinesia, chorea, reduced facial expression, and Parkinsonism-dystonia. This disease is caused by loss of function variants in the SLC6A3 gene, which impair the dopamine transporter protein. The onset of this disease ranges from infancy to adulthood.

Also known as: DTDS, Dopamine transporter deficiency syndrome

12 clinical trials for this condition and its sub-types, 0 tagged with SLC6A3-related dopamine transporter deficiency syndrome itself.

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↑ Hereditary neurological disease (5791) ↑ Movement disorder (805)

Sub-types of SLC6A3-related dopamine transporter deficiency syndrome

Atypical dopamine transporter deficiency syndrome 0 trials
Classic dopamine transporter deficiency syndrome 0 trials

Including sub-types (12) Tagged with SLC6A3-related dopamine transporter deficiency syndrome (0)

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